Canonical Allele Identifier: CA480401795
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2765089
ClinVar RCV Id: RCV003578178
MyVariant Identifiers: chr12:g.58157950A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764167A>G , CM000674.2:g.57764167A>G GRCh38
NC_000012.11:g.58157950A>G , CM000674.1:g.58157950A>G GRCh37
NC_000012.10:g.56444217A>G NCBI36
NG_007076.1:g.8027T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1227T>C ENSP00000518840.1:p.Pro409=
ENST00000713545.1:c.*151T>C ENSP00000518841.1:n.*151T>C
ENST00000228606.9:c.1146T>C MANE Select ENSP00000228606.4:p.Pro382=
ENST00000228606.8:c.1146T>C ENSP00000228606.4:p.Pro382=
ENST00000546567.5:c.441T>C ENSP00000449472.1:p.Pro147=
ENST00000547344.5:n.1285T>C
NM_000785.3:c.1146T>C NP_000776.1:p.Pro382=
NM_000785.4:c.1146T>C MANE Select NP_000776.1:p.Pro382=
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